rs11632488 - BCL2A1 - Metazoa_SRP

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease - Unknown journal (n.d.) · Unknown authors · PubMed 27992413

  [INTRO] INTRODUCTORY PARAGRAPH [INTRO] Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction. We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four novel genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause non-stop mediated mRNA decay and lower expression of UBASH3A. Although 75% of PSC patients have comorbid inflammatory bowel disease (IBD), our data suggest that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG=0.29) is significantly greater than that between PSC and Crohn's disease (CD) (rG=0.04) (P=2.55×10−15). Important

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